Richieri Costa-Da Silva Syndrome

Alias:
Myotonia-Intellectual Disability-Skeletal Anomalies Syndrome
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
里奇埃里·科斯塔-达席尔瓦综合症,又称肌张力障碍-智力障碍-骨骼异常综合症,与肌张力障碍、骨骼异常和智力障碍有关。附属组织包括骨和骨骼肌,相关表型为鸡胸和身材矮小。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
<1/1000000
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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